Tuesday, January 30, 2007

What You Wouldn't Know By Looking At Me

I have to tell you that the early weeks of this pregnancy were some of the most lonely and isolating of my life.

So, you know, I like to try to be perfect. Not perfect-perfect, of course. But really good at the things I know I should be good at. My parents expected a lot from me academically as a kid and I've held myself to relatively high standards ever since. I'm fairly smart, have pretty good genes and so some of this comes somewhat easily. A lot of my time at the gym is (was?) dedicated to developing the perfect body. Not perfect as in flawless, but perfect as in as good as my body could be. So I've kind of gotten used to things being relatively easy for me. Not to say that I don't work hard, but I can't say I've had a whole lot to overcome either.

So when I learned I was pregnant, I had already been doing all the things a possibly pregnant person should do: sleep more, drink less, eat well, exercise, take prenatals, etc. When I met with my doctor and she confirmed the pregnancy, she was very pleased with the steps I had already taken. I like being a star pupil...or patient, whichever the case may be. So I figured I would pretty much have the perfect pregnancy: I would do all the things you're supposed to do when pregnant, but not get all crazed and neurotic about it like some women do. I actually thought I'd be pretty sick at first, but as it turns out, and much to my surprise in the most pleasant way, pregnancy seems to suit me. I haven't been tired and I haven't been nauseous at all. I'm slightly concerned that I might never go to the bathroom like a regular person again, but that's minor in the grand scheme of things. In fact, in many ways, I feel better than I did before I was pregnant. Even my doctors seem to classify me in the category of lucky minority as far as pregnancy symptoms go.

So when my doctor called me and told me my bloodwork showed I had a genetic mutation, I couldn't have been more shocked than if she actually had reached through the phone and slapped me. I certainly felt like I'd be slapped.

Turns out I'm a cystic fibrosis carrier. I have been my entire life without knowing it. I inherited the gene defect from one of my parents. Finding out that I had this mutation pretty much fell under the catergory of "information-I-could-have-used-yesterday". Yesterday being a figurative term for "before I was pregnant". Carriers are symptom-free, which is why, of course, I never in my wildest dreams would have guessed that I was one.

Anyway, I've become something of a genetics expert over the last couple of months, something that those of you who know me, know that science isn't usually my thing. And while I'm finding that genetics can be very interesting and cool in some ways, it'd be a lot more interesting and cool if it was happening to someone else.

You need two cystic fibrosis (CF) carriers to get together in order to have a child with CF. Even then there's only a 25% chance that the child will have CF; a 50% chance that just one of you will pass the mutation and therefore the child will just be a carrier like I am. The remaining 25% is the chance that the child will not inherit any form of the mutation. So now the question was: was my husband also a carrier?

He was immediately rushed for bloodwork, for a carrier screening that picks up basically 90% of the common genetic mutations. While waiting for the results, we learned from our genetic counselor that there was another test that could be done with an accuracy rate of 98% (I'm simplifying here a bit, but this is the gist). Why the hell anyone would want the test that's 90% accurate over the one that's 98% accurate is freakin' beyond me. So we waited for the first test results to come back and then decided to go on for the more complicated, but more accurate test that required full DNA sequencing. We waited an agonizing 10 days for the first set of results to come back, and then another 3 weeks for the second set.

I wish I could say for sure that it's good news. The good news is that Ron is not a carrier of a common mutation like I am. The bad news is that there are some complicating factors that make it impossible to know for sure what the outcome is going to be. It's entirely likely that the baby will be perfectly fine. But we are still at an elevated risk for having a child with CF, either in its traditional form or more likely, something they call atypical CF. Atypical CF usually means that the child only has one or two symptoms of typical cystic fibrosis. And while it's certainly not as bad as full-blown cystic fibrosis, I think every expectant mother would agree that she'd rather not hear anything could possibly be wrong with her child.

While there's no way I could have known that I was a carrier, and it's nobody's fault per se, it is an awful feeling to know you could have unknowingly passed something on that could affect your child's health. I'd much rather something be physically wrong with me.

For as cool as science and modern technology can be, they have their limits, which is incredibly frustrating when you hit those limits. We got involved in all this genetic testing because we wanted answers and we were more or less assured we would get them. What I guess no one expected was our particular combination of genetics, which makes it impossible to get anything concrete. Oh, we can, and probably will, find out what combination, if any, of our mutations/variants the child has inherited. But if we were both CF carriers and learned the child had inherited both our mutations, we would know for sure that the child had cystic fibrosis. With that information, you can make decisions. However, in our case, even if we learn that the child has inherited all the bad genes, there's still no telling what, if anything, will be wrong. True, it makes it more likely that the baby will be perfectly healthy, but it doesn't give us any real answers in advance. And real answers are kind of what you want when you get into the genetic testing game--otherwise it's pretty freakin' pointless.

So I spent a few weeks being angry, not all the time, but mostly when people were bitching to me about their problems, particularly the less-than-serious ones--the ones that I would take on in a heartbeat if only I could switch places. So this pregnancy thing has been a bit of a roller coaster. Until this summer with Baby M, I had never experienced true sadness and seen raw grief. And until this, I had never experienced true fear. At first we were keeping the pregnancy hush-hush because it was too soon to tell people; then it also became that, you know, we weren't entirely sure I'd stay pregnant. Those of you who know me know what a statement that is. So yeah, it was isolating and not very fun. Some days it was hard to talk to people about regular stuff. God-willing now, though, we know I'll be staying pregnant. And most days, I'm really happy about that. But like I said, it's a roller coaster. Most days are good; a few are not so good. Mostly, there's nothing to do but wait and see. What I am extremely thankful for is having an incredibly supportive husband. It's helped that he "gets" all this science stuff. In some ways, this is harder on him than it is on me.

We're not telling most people this. Again, I know I'm posting this on the internet and all, and I'm not sure why exactly I posted this except that maybe I just needed to get it out. A couple of my friends already know. Now you do--all 5 of you who read this. I'm usually pretty private about the negative stuff, so I'm sort of surprised I've told anyone at all. This isn't something I want to dwell on, because frankly, that won't do anyone any good. While I may not necessarily want to talk about it, I guess it will help for people to know that if some days I don't seem over-the-moon happy, well, you know, there's a reason.

Despite all this, we still have it better than a lot of other people do, and for that I'm thankful too. Turns out I'm just not, you know, as perfect as I thought.

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At 12:48 PM, Blogger Star said...

Got it now.

No appropriate words except, best of luck, prayers, and support.


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